Summary
To elucidate whether SLC1A5 is involved in the aetiology of cystinuria, we screened two non-type I cystinuria families without detectable mutations inSLC7A9 (and SLC3A1) but compatible with linkage to 19q13 for genomic variants in SLC1A5. Despite evidence for an involvement of SLC1A5 in the aetiology of cystinuria, we could not identify any mutation in this gene in the two families. With SLC1A5, a further candidate gene for cystinuria can be excluded as being involved in the pathogenesis of this disease in these two families. Of course, there remains the possibility that other genes are involved in cystinuria; further molecular studies will clarify the complex nature of this disorder.
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References
Bisceglia L, Calonge MJ, Totaro A, et al (1997) Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1. Am J Hum Genet 60: 611–616.
Botzenhart E, Vester U, Schmidt C, et al (2002) Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. Kidney Int 62: 1136–1142.
Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, et al (2005) New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet 42: 58–68.
Pineda M, Font M, Bassi MT, et al (2004) The amino acid transporter asc-1 is not involved in cystinuria. Kidney Int 66: 1453–1464.
Potter SJ, Lu A, Wilcken B, Green K, Rasko JEJ (2002) Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5. J Inherit Metab Dis 25: 437–448.
Pras E, Arber N, Aksentijevich I, et al (1994) Localization of a gene causing cystinuria to chromosome 2p. Nature Genetics 6: 415–418.
Schmidt C, Vester U, Hesse A, et al (2004a) The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria. Urol Res 32: 75–78.
Schmidt C, Vester U, Zerres K, Eggermann T (2004b) No evidence for a role of SLC7A10 in 19q13 in the etiology of cystinuria. Clin Nephrol 62: 71–73.
Wartenfeld R, Golomb E, Katz G, et al (1997) Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q. Am J Hum Genet 60: 617–624.
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Brauers, E., Vester, U., Zerres, K. et al. Search for mutations in SLC1A5 (19q13) in cystinuria patients. J Inherit Metab Dis 28, 1169–1171 (2005). https://doi.org/10.1007/s10545-005-0094-x
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DOI: https://doi.org/10.1007/s10545-005-0094-x